Movement Disorders Institute and Department of Neurology, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Movement Disorders Institute and Department of Neurology, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Parkinsonism Relat Disord. 2019 Aug;65:32-38. doi: 10.1016/j.parkreldis.2019.05.010. Epub 2019 May 7.
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a genetically determined neurodegenerative disease which is caused by a 55-200 expansion of CGG repeat element in the promoter region of the fragile X mental retardation 1 (FMR1) gene. The major clinical manifestations are tremor and cerebellar ataxia. Different types of tremor are described in patients with FXTAS: essential tremor-like, rest tremor and cerebellar tremor, and the different tremor types may coexist. There is no effective disease modifying therapy for FXTAS, but troublesome tremor may be treated by pharmacological and surgical approaches used for other more common disorders such as essential tremor and Parkinson's disease.
脆性 X 相关震颤/共济失调综合征（FXTAS）是一种遗传性神经退行性疾病，由脆性 X 智力低下 1 基因（FMR1）启动子区 CGG 重复元件的 55-200 扩展引起。主要临床表现为震颤和小脑共济失调。FXTAS 患者描述了不同类型的震颤：特发性震颤样、静止性震颤和小脑震颤，并且不同类型的震颤可能共存。目前尚无针对 FXTAS 的有效疾病修饰治疗方法，但其他更常见疾病（如特发性震颤和帕金森病）的药物和手术方法可用于治疗烦人的震颤。
